Incidental Mutation 'IGL01344:Eps15l1'
ID |
75003 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eps15l1
|
Ensembl Gene |
ENSMUSG00000006276 |
Gene Name |
epidermal growth factor receptor pathway substrate 15-like 1 |
Synonyms |
Eps15-rs, 9830147J04Rik, Eps15R |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
IGL01344
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
73094843-73175304 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 73136169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163643]
[ENSMUST00000212121]
[ENSMUST00000212590]
|
AlphaFold |
Q60902 |
Predicted Effect |
probably null
Transcript: ENSMUST00000163643
|
SMART Domains |
Protein: ENSMUSP00000129739 Gene: ENSMUSG00000006276
Domain | Start | End | E-Value | Type |
EH
|
8 |
103 |
1.45e-21 |
SMART |
EFh
|
52 |
80 |
6.56e0 |
SMART |
EH
|
120 |
214 |
6.1e-47 |
SMART |
EFh
|
163 |
191 |
4.35e-2 |
SMART |
low complexity region
|
241 |
255 |
N/A |
INTRINSIC |
EH
|
266 |
362 |
5.08e-44 |
SMART |
EFh
|
276 |
304 |
1.09e0 |
SMART |
coiled coil region
|
381 |
564 |
N/A |
INTRINSIC |
internal_repeat_2
|
615 |
656 |
1.56e-6 |
PROSPERO |
low complexity region
|
661 |
678 |
N/A |
INTRINSIC |
low complexity region
|
701 |
722 |
N/A |
INTRINSIC |
low complexity region
|
728 |
743 |
N/A |
INTRINSIC |
low complexity region
|
746 |
764 |
N/A |
INTRINSIC |
low complexity region
|
775 |
790 |
N/A |
INTRINSIC |
internal_repeat_2
|
809 |
839 |
1.56e-6 |
PROSPERO |
low complexity region
|
840 |
853 |
N/A |
INTRINSIC |
UIM
|
863 |
882 |
3.98e1 |
SMART |
UIM
|
889 |
907 |
3.76e2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212121
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212590
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212950
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly damaging |
Het |
|
Other mutations in Eps15l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Eps15l1
|
APN |
8 |
73,138,682 (GRCm39) |
nonsense |
probably null |
|
IGL01316:Eps15l1
|
APN |
8 |
73,143,258 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01918:Eps15l1
|
APN |
8 |
73,121,756 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01982:Eps15l1
|
APN |
8 |
73,132,919 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02305:Eps15l1
|
APN |
8 |
73,140,853 (GRCm39) |
missense |
probably null |
1.00 |
IGL02939:Eps15l1
|
APN |
8 |
73,138,606 (GRCm39) |
splice site |
probably benign |
|
IGL02951:Eps15l1
|
APN |
8 |
73,112,240 (GRCm39) |
missense |
probably benign |
0.19 |
R0025:Eps15l1
|
UTSW |
8 |
73,135,341 (GRCm39) |
splice site |
probably benign |
|
R0025:Eps15l1
|
UTSW |
8 |
73,135,341 (GRCm39) |
splice site |
probably benign |
|
R0030:Eps15l1
|
UTSW |
8 |
73,126,894 (GRCm39) |
missense |
probably benign |
0.03 |
R0030:Eps15l1
|
UTSW |
8 |
73,126,894 (GRCm39) |
missense |
probably benign |
0.03 |
R0799:Eps15l1
|
UTSW |
8 |
73,099,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R1300:Eps15l1
|
UTSW |
8 |
73,145,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R2131:Eps15l1
|
UTSW |
8 |
73,140,712 (GRCm39) |
missense |
probably benign |
0.05 |
R2132:Eps15l1
|
UTSW |
8 |
73,140,712 (GRCm39) |
missense |
probably benign |
0.05 |
R2133:Eps15l1
|
UTSW |
8 |
73,140,712 (GRCm39) |
missense |
probably benign |
0.05 |
R3693:Eps15l1
|
UTSW |
8 |
73,152,904 (GRCm39) |
splice site |
probably benign |
|
R4072:Eps15l1
|
UTSW |
8 |
73,134,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Eps15l1
|
UTSW |
8 |
73,134,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4076:Eps15l1
|
UTSW |
8 |
73,134,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4485:Eps15l1
|
UTSW |
8 |
73,153,531 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4592:Eps15l1
|
UTSW |
8 |
73,095,238 (GRCm39) |
missense |
probably damaging |
0.96 |
R4606:Eps15l1
|
UTSW |
8 |
73,127,760 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4981:Eps15l1
|
UTSW |
8 |
73,132,833 (GRCm39) |
critical splice donor site |
probably null |
|
R5496:Eps15l1
|
UTSW |
8 |
73,136,619 (GRCm39) |
missense |
probably benign |
0.00 |
R5502:Eps15l1
|
UTSW |
8 |
73,132,836 (GRCm39) |
splice site |
probably null |
|
R5682:Eps15l1
|
UTSW |
8 |
73,125,592 (GRCm39) |
nonsense |
probably null |
|
R6326:Eps15l1
|
UTSW |
8 |
73,095,278 (GRCm39) |
nonsense |
probably null |
|
R6384:Eps15l1
|
UTSW |
8 |
73,122,554 (GRCm39) |
critical splice donor site |
probably null |
|
R7305:Eps15l1
|
UTSW |
8 |
73,126,878 (GRCm39) |
missense |
probably benign |
|
R7500:Eps15l1
|
UTSW |
8 |
73,136,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R7732:Eps15l1
|
UTSW |
8 |
73,134,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R8980:Eps15l1
|
UTSW |
8 |
73,127,734 (GRCm39) |
missense |
probably benign |
0.00 |
R9065:Eps15l1
|
UTSW |
8 |
73,145,762 (GRCm39) |
nonsense |
probably null |
|
R9238:Eps15l1
|
UTSW |
8 |
73,095,274 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Eps15l1
|
UTSW |
8 |
73,140,745 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Eps15l1
|
UTSW |
8 |
73,135,281 (GRCm39) |
missense |
probably benign |
0.37 |
Z1177:Eps15l1
|
UTSW |
8 |
73,126,922 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2013-10-07 |